SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2503293795 TTLL5 Health Risk Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS2503294089 TTLL5 Health Risk Likely pathogenic —
RS2503299745 MLH3 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2503301874 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503301904 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2503302354 SPTB Health Risk Likely pathogenic —
RS2503302459 SPTB Health Risk Likely pathogenic —
RS2503302896 SPTB Health Risk Likely pathogenic —
RS2503302943 SPTB Health Risk Conflicting classifications of pathogenicity —
RS2503307220 MLH3 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2503308246 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503308679 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503310309 SMOC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503316638 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503322134 NEMF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503333418 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503334528 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503334646 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503336726 MLH3 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2503340730 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503340945 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503341192 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503341284 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503347123 SOS2 Health Risk Likely pathogenic Male infertility due to gonadal dysgenesis or sperm disorder, Male infertility due to gonadal dysgenesis or sperm disorder
RS2503347872 TTLL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2503347922 TTLL5 Health Risk Pathogenic —
RS2503354229 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503354386 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503354731 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503362421 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503362565 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503362624 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503362772 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503362968 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503363505 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503363555 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503365928 NEMF Health Risk Likely pathogenic —
RS2503370241 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503370602 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503370932 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503371405 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503371759 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503371903 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503371935 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503372037 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503372046 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503372158 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503372461 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503375681 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503376348 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503376435 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503376595 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503430713 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503431601 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503439741 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503439925 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503440863 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503448012 TMEM260 Health Risk Likely pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS2503449824 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503449891 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503459108 NEK9 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503459594 CALM1 Health Risk Pathogenic Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
RS2503468051 PRIMA1 Health Risk Pathogenic Familial sleep-related hypermotor epilepsy, Familial sleep-related hypermotor epilepsy
RS2503476879 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503477067 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503477272 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503477336 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503477376 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503479112 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2503486792 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2503489724 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS2503489913 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2503490903 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2503494605 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS2503494836 L2HGDH Health Risk Likely pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS2503498157 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS2503498171 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2503498523 TSHR Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2503500594 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503500771 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503501168 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2503501853 NEK9 Health Risk Likely pathogenic Arthrogryposis, Perthes disease
RS2503508939 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS2503509293 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503509690 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503512754 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS2503513136 SHANK2 Health Risk Likely pathogenic Autism, susceptibility to
RS2503513184 MYCBP2 Health Risk Pathogenic —
RS2503518878 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503518940 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503519040 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503519059 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503519099 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503519260 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503523725 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2503527725 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2503527861 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS2503528053 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503528244 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503528457 NEK9 Health Risk Likely pathogenic —
« Prev 1 ... 2183 2184 2185 2186 2187 2188 2189 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →